NM_147127.5(EVC2):c.450+2T>C AND Ellis-van Creveld syndrome

Clinical significance:Likely pathogenic (Last evaluated: Oct 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000670299.1

Allele description [Variation Report for NM_147127.5(EVC2):c.450+2T>C]

NM_147127.5(EVC2):c.450+2T>C

Gene:
EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.2
Genomic location:
Preferred name:
NM_147127.5(EVC2):c.450+2T>C
HGVS:
  • NC_000004.12:g.5694333A>G
  • NG_015821.1:g.20216T>C
  • NM_001166136.2:c.210+2T>C
  • NM_147127.5:c.450+2T>CMANE SELECT
  • NC_000004.11:g.5696060A>G
  • NM_147127.4:c.450+2T>C
Links:
dbSNP: rs781096099
NCBI 1000 Genomes Browser:
rs781096099
Molecular consequence:
  • NM_001166136.2:c.210+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_147127.5:c.450+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Ellis-van Creveld syndrome (EVC)
Synonyms:
Chondroectodermal dysplasia; Mesoectodermal dysplasia
Identifiers:
MONDO: MONDO:0009162; MedGen: C0013903; Orphanet: 289; OMIM: 225500

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000795134Counsylcriteria provided, single submitter
Likely pathogenic
(Oct 27, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000795134.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center